Charcot marie tooth disease also known as CMT is a inherited disorder of the peripheral nervous system. The peripheral nervous system is one of the two components in the nervous system. The peripheral nervous system is made up of nerves and ganglia outside the brain and spinal cord. CMT is a progressive loss of muscle tissue and touch sensation in the body. People who have the disease usually have a high arch and claw toes. One in 2,500 people are affected. CMT usually appears in adolescence or early adulthood. CMT is caused by mutations in a variety of genes. There are two types of CMT.
Charcot-Marie-Tooth Disease displayed in feet.
Signs and Symptoms- One of the most common signs of Charcot-Marie-Tooth Disease is weakness in the foot and lower leg muscles. This may result in increased clumsiness, foot drop, a high steppage gait, as well as certain foot deformities like hammertoes since the small muscles in the foot become weak. In addition to this, the loss of muscle bulk may result in the lower legs shaping into what can be compared to an “inverted champagne bottle.” Symptoms that occur later on in the disease include the muscle atrophy in the hands weakening, which can lead to the inability to carry out fine motor skills. Symptoms for this disease typically appear around adolescence to early adulthood, and pain and severity of the disease varies from person to person. Charcot-Marie-Tooth Disease is not considered fatal, although it is possible but very rare for it to cause respiratory weakness, and those diagnosed with this disease usually have a normal life expectancy.
"Inverted champagne bottle" resemblance cause by CMT.
Management and treatment- The main treatment for CMT is self care such as exercises. Physical therapy and occupational therapy may be suggested. Medication may be prescribed to reduce pain. Stretching is very important and braces or splints may be beneficial.
Genetics- There are different types of Charcot-Marie-Tooth Disease, and different forms can be inherited through autosomal dominant, autosomal recessive, or X-linked chromosomes. Many forms of this disease are caused by mutations, and all forms can only be passed down through genetics. Because certain types of Charcot-Marie-Tooth Disease are X-linked, males are more at risk for those types of Charcot-Marie-Tooth Disease.
History- Symptoms of Charcot-Marie-Tooth Disease were first recorded in 1886, when Jean Martin Charcot and Pierre Marie both recorded weakness in the limbs using the name peroneal muscular atrophy. The same year, Howard Henry Tooth recorded the same disease, but under the name of peroneal progressive muscular atrophy. Unlike other researchers, who had previously connected Charcot-Marie-Tooth disease to spinal cord disease, Tooth linked the disease to neuropathy. Over time, various research led way to show that there are multiple forms of Charcot-Marie-Tooth Disease. Different types may have different effects on someone and may be caused by different alleles.
Distribution- It appears to affect less people in the united states then worldwide.
Society and culture- People who suffer from CMT might have trouble breathing because the condition affects the nerves that control the diaphragm. The disease can also affect everyday activity because of the loss of touch and their stability causes them to fall. People with CMT might not be able to drive, zip up a zipper, and make a bed.
Fun Fact- More pain is caused from walking awkwardly because of Charcot-Marie-Tooth Disease rather than the damaged nerves themselves.
Charcot Marie Tooth Disease-
Overview-
Charcot marie tooth disease also known as CMT is a inherited disorder of the peripheral nervous system. The peripheral nervous system is one of the two components in the nervous system. The peripheral nervous system is made up of nerves and ganglia outside the brain and spinal cord. CMT is a progressive loss of muscle tissue and touch sensation in the body. People who have the disease usually have a high arch and claw toes. One in 2,500 people are affected. CMT usually appears in adolescence or early adulthood. CMT is caused by mutations in a variety of genes. There are two types of CMT.
Signs and Symptoms-
One of the most common signs of Charcot-Marie-Tooth Disease is weakness in the foot and lower leg muscles. This may result in increased clumsiness, foot drop, a high steppage gait, as well as certain foot deformities like hammertoes since the small muscles in the foot become weak. In addition to this, the loss of muscle bulk may result in the lower legs shaping into what can be compared to an “inverted champagne bottle.” Symptoms that occur later on in the disease include the muscle atrophy in the hands weakening, which can lead to the inability to carry out fine motor skills. Symptoms for this disease typically appear around adolescence to early adulthood, and pain and severity of the disease varies from person to person. Charcot-Marie-Tooth Disease is not considered fatal, although it is possible but very rare for it to cause respiratory weakness, and those diagnosed with this disease usually have a normal life expectancy.
Management and treatment-
The main treatment for CMT is self care such as exercises. Physical therapy and occupational therapy may be suggested. Medication may be prescribed to reduce pain. Stretching is very important and braces or splints may be beneficial.
Genetics-
There are different types of Charcot-Marie-Tooth Disease, and different forms can be inherited through autosomal dominant, autosomal recessive, or X-linked chromosomes. Many forms of this disease are caused by mutations, and all forms can only be passed down through genetics. Because certain types of Charcot-Marie-Tooth Disease are X-linked, males are more at risk for those types of Charcot-Marie-Tooth Disease.
History-
Symptoms of Charcot-Marie-Tooth Disease were first recorded in 1886, when Jean Martin Charcot and Pierre Marie both recorded weakness in the limbs using the name peroneal muscular atrophy. The same year, Howard Henry Tooth recorded the same disease, but under the name of peroneal progressive muscular atrophy. Unlike other researchers, who had previously connected Charcot-Marie-Tooth disease to spinal cord disease, Tooth linked the disease to neuropathy. Over time, various research led way to show that there are multiple forms of Charcot-Marie-Tooth Disease. Different types may have different effects on someone and may be caused by different alleles.
Distribution-
It appears to affect less people in the united states then worldwide.
Society and culture-
People who suffer from CMT might have trouble breathing because the condition affects the nerves that control the diaphragm. The disease can also affect everyday activity because of the loss of touch and their stability causes them to fall. People with CMT might not be able to drive, zip up a zipper, and make a bed.
Fun Fact-
More pain is caused from walking awkwardly because of Charcot-Marie-Tooth Disease rather than the damaged nerves themselves.
Links-
Charcot-Marie-Tooth Association (CMTA)
Types of CMT
References-
"Charcot-Marie-Tooth Disease Fact Sheet." NINDS, No. 07-4897, NIH Publication, Apr. 2007,
https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Charcot-Marie-Tooth-Disease-Fact-Sheet#265923092%5C
"Charcot-Marie-Tooth (CMT)." Yale School of Medicine, 30 July 2013,
https://medicine.yale.edu/neurology/patients/neuromuscular/cmt.aspx
"Charcot-Marie-Tooth Disease - Causes/Inheritance." The Muscular Dystrophy Association,
https://www.mda.org/disease/charcot-marie-tooth/causes-inheritance
"Charcot-Marie-Tooth Disease." National Organization For Rare Disorders, 2009,
https://rarediseases.org/rare-diseases/charcot-marie-tooth-disease/
"Quick Facts." Charcot-Marie-Tooth UK, 29 Aug 2017,
http://cmt.org.uk/awareness/get-involved/quick-facts/#